Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FAM86JP 100125556 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 4 70 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr10:51749117G>A ENST00000412531.3 + 2 345 c.273G>A c.(271-273)caG>caA p.Q91Q AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 91 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.Q91Q(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CAATATTCCAGAGGAACTCTC 0.358000 4 44 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44250125 44250125 + Missense_Mutation SNP T T G TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr6:44250125T>G ENST00000371505.4 - 4 1140 c.1018A>C c.(1018-1020)Aac>Cac p.N340H TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 340 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTAGCCAGGTTGAGCACACGC 0.602000 17 67 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72032295 72032295 + Splice_Site SNP G G A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr12:72032295G>A ENST00000378743.3 - 7 1986 c.1627_splice c.e7-1 p.A543_splice NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 543 Pro-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGGTGAAGGAGCTGTAAAAAA 0.358000 7 21 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436724 72436724 + Missense_Mutation SNP A A T TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr17:72436724A>T ENST00000392627.1 + 2 2070 c.944A>T c.(943-945)cAc>cTc p.H315L GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.H282L|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 270 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 AACAAGCAGCACAACAGTCCC 0.607000 3 47 0 0 1 0 0 GOSR2 9570 broad.mit.edu 37 17 45016027 45016027 + Silent SNP G G A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr17:45016027G>A ENST00000576910.2 + 5 475 c.399G>A c.(397-399)cgG>cgA p.R133R GOSR2_ENST00000225567.4_Silent_p.R180R|GOSR2_ENST00000439730.2_Silent_p.R180R|RP11-156P1.2_ENST00000571841.1_Silent_p.R180R|GOSR2_ENST00000393456.2_Silent_p.R180R O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 180 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) CAGTGATGCGGCTCATCGAGA 0.493000 4 173 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 6 55 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 70 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 4 31 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36893822 36893822 + Frame_Shift_Del DEL C C - TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr3:36893822delC ENST00000429976.2 - 13 4679 c.4432delG c.(4432-4434)cafs p.A1478fs TRANK1_ENST00000428977.2_Frame_Shift_Del_p.A928fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.A928fs O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1478 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ACTCCAGATGCCAGATTGAGG 0.428 2 4 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25032205 25032205 + Frame_Shift_Del DEL G G - TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr4:25032205delG ENST00000382114.4 - 1 296 c.111delC c.(109-111)ccfs p.P37fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 37 LRRNT. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TGCAAGTGGCGGGGCAGCGCG 0.706 3 5 --- --- --- --- CACNA1H 8912 broad.mit.edu 37 16 1260066 1260066 + Frame_Shift_Del DEL A A - TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr16:1260066delA ENST00000348261.5 + 18 4024 c.3776delA c.(3775-3777)ggfs p.E1259fs CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.E1259fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.E1259fs NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1259 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AAAGTGCTGGAGCCCTACAAG 0.697 2 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763863 72763864 + RNA INS - - A TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr16:72763863_72763864insA ENST00000563328.2 + 0 164 TTCAGCGGTCCAAAACAAAAAA 0.441 2 4 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114749 23114749 + RNA DEL T T - rs74864698 TCGA-S7-A7WP-01A-11D-A35I-08 TCGA-S7-A7WP-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 687119b3-37f2-45c9-a3a7-99f98f22db9f 97dfb2ff-9dc1-4c76-9c1e-905963ed10e8 g.chr22:23114749delT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTT 0.498 5 10 --- --- --- ---